E12V (p.Glu12Val) variant of PSEN2 (Presenilin-2)
E12V (p.Glu12Val) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E12V (p.Glu12Val) variant details
- p.Glu12Val
- gnomAD 1-226881942-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.61
- CADD 26.40
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available